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For our next talk, in the BDI/CHG (gen)omics Seminar series, we will be hearing from Siddharth Banka, Professor of Genomic Medicine and Rare Diseases at the University of Manchester; Consultant Clinical Geneticist, Manchester Centre for Genomic Medicine and Clinical Director, Manchester Rare Conditions Centre. We’re delighted to host Sid in what promises to be a great talk!
Talk title: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes
Date: Tuesday 17 February 2026
Time: 9:30 – 10:30 am
Location: BDI/OxPop Seminar room 0
Bio:
Sid is a Professor of Genomic Medicine and Rare Diseases at the University of Manchester, a Consultant Clinical Geneticist at the Manchester Centre for Genomic Medicine and Clinical Director of the Manchester Rare Conditions Centre. His research programs focus on novel disease-gene discovery; improving diagnosis through innovative data analysis and multi-omic approaches; understanding mechanisms and natural history of developmental diseases; and performing therapeutic clinical trials. He co-leads the Rare Conditions theme of the NIHR Manchester Biomedical Research Centre, the EpiGenRare node of the MRC UK Rare Disease Research Platform, and NHSE Rare Disease Genomics Network of Excellence.
Abstract:
R-loops are DNA–RNA hybrid structures that may promote mutagenesis. However, their contribution to human Mendelian disorders is unexplored. Here we show excess de novo variants in genomic regions that form R-loops (henceforth, ‘R-loop regions’) and demonstrate enrichment of R-loop region variants (RRVs) in ribozyme, snoRNA and snRNA genes, specifically in rare disease cohorts. Using this insight, we report neurodevelopmental disorders (NDDs) caused by rare variants in two major spliceosomal RNA encoding genes, RNU2-2 and RNU5B-1. These, along with the recently described RNU4-2-related ReNU syndrome, provide a genetic explanation for a substantial proportion of individuals with NDDs.
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All members of the University are welcome to join, please let reception at BDI know you’re here for the seminar and sign-in. We hope you can join us!
We also now have a mailing list –
To be added, ping genomics_bdi_whg-subscribe@maillist.ox.ac.uk (with any message), you should get a bounce-back with three options to confirm your subscription. Follow any of those options, and with a bit of luck you should be signed up!
As a reminder, the (gen)omics seminar series runs every other Tuesday morning and is intended to increase interaction between individuals working in genomics across Oxford. We encourage in-person attendance where possible. There is time for discussion over, tea, coffee and pastries after the talks.
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Hybrid Option:
Please note that these meetings are closed meetings and only open to members of the University of Oxford to encourage sharing of new and unpublished data. Please respect our speakers and do not share the link with anyone outside of the university.
Microsoft Teams meeting
teams.microsoft.com/meet/33903363866658?p=GmKAkkTnYKSo87LlUN
Meeting ID: 339 033 638 666 58
Passcode: 4Zg7Xn9k
